【辛卡综合征:一种罕见的乳头水肿病因。纯合子双胞胎病例】。

PubMed ID
发表日期 2010年Jan月

原始出处 《法语》杂志
Journal francais d'ophtalmologie
作者 Carzoli  A  Maalouf  T  Henckes  O  Lemelle  I  George  J-L  Angioi  K 

文献标题 【辛卡综合征:一种罕见的乳头水肿病因。纯合子双胞胎病例】。
[CINCA syndrome: a rare cause of papilledema. The case of homozygous twins].

文献摘要

CINCA综合征是一种儿童期自身炎症性疾病,其特征是多系统表现:皮肤、关节和神经系统,包括感觉器官。我们报告一例受CINCA综合征影响的纯合子双胞胎。该诊断是基于多种全身症状(多发不明原因发热、智力低下、身材矮小、脑膜炎、听力损失、双侧乳头水肿)进行的,并通过基因分析证实存在CIAS1突变。在接受anakinra(白细胞介素-1受体拮抗剂)治疗数月后,儿童开始再次生长,我们注意到生物炎症综合征的消退。


CINCA syndrome is an autoinflammatory disease in childhood characterized by multisystemic manifestations: cutaneous, articular, and neurological including sensory organs. We report the case of homozygous twins affected by CINCA syndrome. The diagnosis was evoked on the basis of multiple systemic symptoms (multiple episodes of fever of unknown origin, mental retardation, short stature, meningitis, hearing loss, bilateral papilledema) and confirmed by the presence of a CIAS1 mutation on genetic analysis. After few months of treatment by anakinra (an interleukin-1 receptor antagonist) the children began to grow again and we noted regression of the biological inflammatory syndrome.


获取全文 10.1016/j.jfo.2009.11.003